Incidental Mutation 'R9775:Plppr1'
ID 733627
Institutional Source Beutler Lab
Gene Symbol Plppr1
Ensembl Gene ENSMUSG00000063446
Gene Name phospholipid phosphatase related 1
Synonyms E130309F12Rik, PRG-3, Lppr1
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.373) question?
Stock # R9775 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 49059273-49340259 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 49323435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 242 (T242S)
Ref Sequence ENSEMBL: ENSMUSP00000075966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076670]
AlphaFold Q8BFZ2
Predicted Effect probably benign
Transcript: ENSMUST00000076670
AA Change: T242S

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000075966
Gene: ENSMUSG00000063446
AA Change: T242S

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 66 88 N/A INTRINSIC
acidPPc 128 272 4.47e-16 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the plasticity-related gene (PRG) family. Members of the PRG family mediate lipid phosphate phosphatase activity in neurons and are known to be involved in neuronal plasticity. The protein encoded by this gene does not perform its function through enzymatic phospholipid degradation. This gene is strongly expressed in brain. It shows dynamic expression regulation during brain development and neuronal excitation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700069L16Rik T G 5: 113,861,765 (GRCm39) Q35P unknown Het
Angptl2 G A 2: 33,118,230 (GRCm39) M1I probably null Het
Bptf T C 11: 106,934,502 (GRCm39) E223G probably benign Het
C2cd3 T A 7: 100,076,458 (GRCm39) I805N Het
Cep152 G A 2: 125,423,660 (GRCm39) Q914* probably null Het
Clasp2 A G 9: 113,725,740 (GRCm39) T794A probably benign Het
Cntnap2 A G 6: 47,026,261 (GRCm39) Y970C probably damaging Het
Ddx11 G T 17: 66,445,157 (GRCm39) V360L probably damaging Het
Fer1l6 G A 15: 58,497,098 (GRCm39) V1223I probably benign Het
Fez2 A T 17: 78,708,183 (GRCm39) I255N probably damaging Het
Gata3 A G 2: 9,863,197 (GRCm39) V439A possibly damaging Het
Il23a G C 10: 128,132,829 (GRCm39) R143G probably benign Het
Kcnj9 T A 1: 172,153,741 (GRCm39) I128F probably damaging Het
Klhdc2 A G 12: 69,350,393 (GRCm39) D146G probably damaging Het
Klra6 T A 6: 129,999,639 (GRCm39) R110W probably damaging Het
Ldha A T 7: 46,491,047 (GRCm39) probably benign Het
Lingo2 C A 4: 35,708,781 (GRCm39) A400S probably benign Het
Lrrd1 A T 5: 3,899,897 (GRCm39) R67S probably benign Het
Mapk6 C T 9: 75,295,668 (GRCm39) C610Y possibly damaging Het
Mia3 G A 1: 183,109,125 (GRCm39) R656* probably null Het
Myoz2 T C 3: 122,807,399 (GRCm39) E137G probably damaging Het
Nemp2 T A 1: 52,680,064 (GRCm39) I96N probably damaging Het
Npy1r A G 8: 67,157,742 (GRCm39) M351V possibly damaging Het
Nsg2 G A 11: 32,005,029 (GRCm39) S77N possibly damaging Het
Or10ag53 A G 2: 87,082,568 (GRCm39) M96V probably damaging Het
Or5ac17 T A 16: 59,036,069 (GRCm39) R302S possibly damaging Het
Or6c5c T C 10: 129,298,677 (GRCm39) I44T probably benign Het
Osbpl9 G A 4: 109,013,747 (GRCm39) probably benign Het
Pcolce2 G A 9: 95,520,797 (GRCm39) C58Y probably damaging Het
Piezo1 A G 8: 123,208,927 (GRCm39) F2480L probably damaging Het
Pip5k1c T A 10: 81,147,853 (GRCm39) D419E probably damaging Het
Ppp1r13b A C 12: 111,803,457 (GRCm39) S254A possibly damaging Het
Pramel17 A G 4: 101,694,244 (GRCm39) M213T probably benign Het
Ripk3 A G 14: 56,023,252 (GRCm39) L151S unknown Het
Scmh1 A T 4: 120,340,820 (GRCm39) M169L probably benign Het
Serpinb9d A T 13: 33,382,007 (GRCm39) R159W probably damaging Het
Slc26a9 A G 1: 131,690,970 (GRCm39) R583G possibly damaging Het
Smim8 T C 4: 34,769,068 (GRCm39) E72G probably damaging Het
Sned1 A G 1: 93,199,604 (GRCm39) N511S probably damaging Het
Srprb A C 9: 103,078,490 (GRCm39) V80G probably benign Het
Ssx2ip G A 3: 146,136,808 (GRCm39) S352N probably benign Het
Tbccd1 A G 16: 22,652,666 (GRCm39) S152P probably damaging Het
Tenm4 T C 7: 96,555,761 (GRCm39) I2822T possibly damaging Het
Tff1 A G 17: 31,383,972 (GRCm39) V8A probably benign Het
Tmem132b T A 5: 125,864,566 (GRCm39) S891T probably benign Het
Tmem200c T A 17: 69,149,118 (GRCm39) V567D probably damaging Het
Trim3 G A 7: 105,260,377 (GRCm39) T708M probably damaging Het
Ttn T C 2: 76,544,927 (GRCm39) N32725S possibly damaging Het
Ubash3b T G 9: 40,926,214 (GRCm39) E633A possibly damaging Het
Usp4 A G 9: 108,239,780 (GRCm39) R170G probably damaging Het
Wdr33 T A 18: 32,037,406 (GRCm39) L1222Q unknown Het
Zfhx2 A G 14: 55,304,562 (GRCm39) S1141P probably benign Het
Other mutations in Plppr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01980:Plppr1 APN 4 49,319,992 (GRCm39) missense possibly damaging 0.88
PIT4403001:Plppr1 UTSW 4 49,337,648 (GRCm39) missense probably benign 0.01
R0605:Plppr1 UTSW 4 49,323,466 (GRCm39) missense probably damaging 1.00
R1381:Plppr1 UTSW 4 49,337,674 (GRCm39) missense possibly damaging 0.85
R1452:Plppr1 UTSW 4 49,301,067 (GRCm39) splice site probably benign
R1682:Plppr1 UTSW 4 49,325,617 (GRCm39) critical splice acceptor site probably null
R1980:Plppr1 UTSW 4 49,337,655 (GRCm39) missense probably benign 0.09
R4261:Plppr1 UTSW 4 49,300,993 (GRCm39) missense probably benign 0.09
R4674:Plppr1 UTSW 4 49,323,384 (GRCm39) missense probably damaging 1.00
R5064:Plppr1 UTSW 4 49,319,974 (GRCm39) missense probably benign 0.19
R5144:Plppr1 UTSW 4 49,319,800 (GRCm39) missense possibly damaging 0.71
R7545:Plppr1 UTSW 4 49,320,002 (GRCm39) missense possibly damaging 0.88
R7823:Plppr1 UTSW 4 49,325,703 (GRCm39) missense probably benign 0.01
R8049:Plppr1 UTSW 4 49,300,942 (GRCm39) missense probably benign
R8902:Plppr1 UTSW 4 49,319,836 (GRCm39) missense probably damaging 1.00
R9378:Plppr1 UTSW 4 49,325,627 (GRCm39) nonsense probably null
Z1177:Plppr1 UTSW 4 49,319,995 (GRCm39) missense probably damaging 0.97
Z1177:Plppr1 UTSW 4 49,319,950 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTCCTTGTTTCTGACCTGG -3'
(R):5'- ATGGCGACTCAGACTGGAATC -3'

Sequencing Primer
(F):5'- GGACTCACTGGTCTGGTCTC -3'
(R):5'- TCAGACTGGAATCTGGGAAAGTC -3'
Posted On 2022-11-14